ARF guanine nucleotide exchange factor 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinteddevelopmental delay, impaired speech, and behavioral abnormalities, with or without seizures
Intellectual disability
Joubert syndrome 21
Global developmental delay
hereditary disease
Delayed speech and language development
Atypical behavior
epilepsy
Seizure
Neurodevelopmental delay
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Brefeldin A-inhibited guanine nucleotide-exchange protein 1
Promotes guanine-nucleotide exchange on ARF1 and ARF3. Promotes the activation of ARF1/ARF3 through replacement of GDP with GTP. Involved in vesicular trafficking. Required for the maintenance of Golgi structure; the function may be independent of its GEF activity. Required for the maturation of integrin beta-1 in the Golgi. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways. Inhibits GAP activity of MYO9B probably through competitive RhoA binding. The function in the nucleus remains to be determined
ARFGEF1 · Q9Y6D6
Mean pLDDT
75.4/ 100
Confident
1,849 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
